Sugi Variant

Sugi Variant/CHD5

CHD5 — 615 ClinVar variants

All ClinVar germline CHD5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 410 flagged for review →

8 Pathogenic · 5 Pathogenic/Likely pathogenic · 29 Likely pathogenic · 9 Conflicting · 17 Benign · 4 Benign/Likely benign · 73 Likely benign · 470 Uncertain significance

Full CHD5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 410

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 4

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 298

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 298

Predictors split 106

The independent predictors disagree with each other — read with care.

All CHD5 variants

Pathogenic 8

Pathogenic/Likely pathogenic 5

  • c.4171+1G>A Multiple submitters Neurodevelopmental delay
  • p.Arg1618Ter Multiple submitters congenital anomaly of kidney and urinary tract
  • p.Arg193Trp Multiple submitters Global developmental delay
  • p.Pro1124Leu Multiple submitters Global developmental delay
  • p.Ser912Phe Multiple submitters Global developmental delay

Likely pathogenic 29

  • c.1590+1G>T Single submitter
  • c.4171+1G>C Single submitter Global developmental delay
  • c.4171+5G>A Single submitter neurodevelopmental disorder
  • c.5743-1G>C Single submitter parenti-mignot neurodevelopmental syndrome
  • p.Ala1102Glu Single submitter parenti-mignot neurodevelopmental syndrome
  • p.Ala1853fs Single submitter Neurodevelopmental abnormality
  • p.Arg1133Cys Single submitter parenti-mignot neurodevelopmental syndrome
  • p.Arg1136His Single submitter Global developmental delay
  • p.Arg596Ter Single submitter Global developmental delay
  • p.Arg851His Single submitter parenti-mignot neurodevelopmental syndrome
  • p.Arg931Gln Single submitter
  • p.Asn1140Ile Single submitter Seizure ⚠
  • p.Asp1084Asn Single submitter Seizure
  • p.Asp1488Val Single submitter Global developmental delay
  • p.Glu1063Lys Single submitter parenti-mignot neurodevelopmental syndrome
  • p.Glu1714Gly Single submitter Global developmental delay
  • p.Glu1866Leu Single submitter parenti-mignot neurodevelopmental syndrome
  • p.Glu427Lys Single submitter Global developmental delay
  • p.Ile1419Met Single submitter Global developmental delay ⚠
  • p.Ile281fs Single submitter parenti-mignot neurodevelopmental syndrome
  • p.Ile839fs Single submitter parenti-mignot neurodevelopmental syndrome
  • p.Leu47Phe Single submitter parenti-mignot neurodevelopmental syndrome ⚠
  • p.Leu932Arg Single submitter parenti-mignot neurodevelopmental syndrome
  • p.Pro1124Ser Single submitter Inborn genetic diseases
  • p.Ser205fs Single submitter Global developmental delay
  • p.Trp1122Cys Single submitter parenti-mignot neurodevelopmental syndrome
  • p.Tyr1524Ter Single submitter parenti-mignot neurodevelopmental syndrome
  • p.Val1453fs Single submitter parenti-mignot neurodevelopmental syndrome
  • p.Leu497fs No assertion criteria

Conflicting classifications of pathogenicity 9

Benign 17

Benign/Likely benign 4

Likely benign 73

Uncertain significance 470

Showing the top 300 by review status; the full set is in the sitemap.